Variant report

Variant	rs1330557
Chromosome Location	chr13:96593129-96593130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10508027	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616724	0.89[EUR][1000 genomes]
rs11618108	0.89[EUR][1000 genomes]
rs11619636	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12428062	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1330556	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16951448	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1788062	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1854758	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2129006	0.82[EUR][1000 genomes]
rs2170813	0.82[EUR][1000 genomes]
rs3099362	0.95[ASN][1000 genomes]
rs3099363	0.95[ASN][1000 genomes]
rs4254181	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4347496	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4383020	0.95[ASN][1000 genomes]
rs4409947	0.81[ASN][1000 genomes]
rs4526890	0.95[ASN][1000 genomes]
rs4547219	0.89[EUR][1000 genomes]
rs476954	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4773932	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492247	0.84[EUR][1000 genomes]
rs493423	0.91[EUR][1000 genomes]
rs502311	0.86[EUR][1000 genomes]
rs504340	0.84[EUR][1000 genomes]
rs531549	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs537463	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs539293	0.84[EUR][1000 genomes]
rs56077337	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs565297	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs565898	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs568170	0.91[EUR][1000 genomes]
rs581462	0.86[EUR][1000 genomes]
rs651812	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs661544	0.86[ASN][1000 genomes]
rs662884	0.86[ASN][1000 genomes]
rs672988	0.86[EUR][1000 genomes]
rs688133	0.86[EUR][1000 genomes]
rs72636541	0.95[ASN][1000 genomes]
rs72636556	1.00[ASN][1000 genomes]
rs72636562	0.98[ASN][1000 genomes]
rs72636570	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72637833	0.82[EUR][1000 genomes]
rs72637836	0.82[EUR][1000 genomes]
rs72637837	0.82[EUR][1000 genomes]
rs72637840	0.89[EUR][1000 genomes]
rs72638023	0.89[EUR][1000 genomes]
rs72638024	0.89[EUR][1000 genomes]
rs72638031	0.84[EUR][1000 genomes]
rs7332078	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7334320	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7335209	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7339059	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7999737	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000018	0.95[ASN][1000 genomes]
rs816122	0.86[EUR][1000 genomes]
rs816142	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9516621	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9525077	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9525079	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9525097	0.83[AFR][1000 genomes]
rs9590344	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96577200-96598000	Weak transcription	HMEC	breast
3	chr13:96577800-96608800	Weak transcription	NHEK	skin
4	chr13:96584000-96599200	Weak transcription	Colonic Mucosa	Colon
5	chr13:96584200-96611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:96586000-96601200	Weak transcription	NHDF-Ad	bronchial
7	chr13:96586600-96601400	Weak transcription	HUVEC	blood vessel
8	chr13:96588600-96603400	Weak transcription	NH-A	brain
9	chr13:96588800-96596400	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:96588800-96605400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:96588800-96606400	Weak transcription	Fetal Heart	heart
12	chr13:96588800-96611200	Weak transcription	Gastric	stomach
13	chr13:96589000-96593600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:96589000-96593600	Weak transcription	HSMMtube	muscle
15	chr13:96589000-96594200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:96589000-96594200	Weak transcription	Brain Substantia Nigra	brain
17	chr13:96589000-96594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:96589000-96594600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:96589000-96595200	Weak transcription	GM12878-XiMat	blood
20	chr13:96589000-96598600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:96589000-96598600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:96589000-96599200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:96589000-96600200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:96589000-96600200	Weak transcription	Esophagus	oesophagus
25	chr13:96589000-96600400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:96589000-96601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:96589000-96601000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr13:96589000-96601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:96589000-96602200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:96589000-96602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:96589000-96602200	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:96589000-96602600	Weak transcription	Brain Anterior Caudate	brain
33	chr13:96589000-96603000	Weak transcription	Fetal Kidney	kidney
34	chr13:96589000-96603600	Weak transcription	Right Ventricle	heart
35	chr13:96589000-96604400	Weak transcription	Placenta	Placenta
36	chr13:96589000-96605800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:96589000-96609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:96589000-96609600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr13:96589000-96611000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:96589000-96611000	Weak transcription	Pancreas	Pancrea
41	chr13:96589000-96611800	Weak transcription	A549	lung
42	chr13:96589000-96611800	Weak transcription	HepG2	liver
43	chr13:96589000-96612000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr13:96589000-96615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:96589200-96601000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:96589200-96602200	Weak transcription	Fetal Intestine Small	intestine
47	chr13:96589200-96609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:96589200-96609600	Weak transcription	Fetal Stomach	stomach
49	chr13:96589400-96593200	Strong transcription	Left Ventricle	heart
50	chr13:96589400-96594800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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